Publications dans lesquelles il/elle collabore avec José Alberto Escudero Valenzuela (4)

2022

  1. Splicing Analysis of 16 PALB2 ClinVar Variants by Minigene Assays: Identification of Six Likely Pathogenic Variants

    Cancers, Vol. 14, Núm. 18

  2. Splicing predictions, minigene analyses, and ACMG-AMP clinical classification of 42 germline PALB2 splice-site variants

    Journal of Pathology, Vol. 256, Núm. 3, pp. 321-334

2019

  1. Minigene splicing assays identify 12 spliceogenic variants of BRCA2 exons 14 and 15

    Frontiers in Genetics, Vol. 10, Núm. MAY

2018

  1. Genetic dissection of the BRCA2 promoter and transcriptional impact of DNA variants

    Breast Cancer Research and Treatment, Vol. 171, Núm. 1, pp. 53-63